The project involves an investigation of metabolic and biochemical heritable disorders. The approach is designed to detect new metabolic disorders and to understand the altered metabolic interrelationships which result in the phenotype of diseases with known, specific enzymatic deficiencies. The information gained is intended to be useful in better diagnosis, including antenatal, and the derivation of more rational management or prophylaxis. The areas addressed are those involving abnormalities of carbohydrate metabolism; glycogen storage disease, galactosemia and the mucopolysaccharidoses; lipid disorders, in particular the detection of hyperlipoproteinemias in cord blood; amino- acid abnormalities in children with speech disorders and those with abnormal hair and dystrophic nails; and various familial myopathies.